Rare Gastrointestinal Anomaly as a Cause of Severe Anemia in Children

Introduction

Anemia in children is commonly attributed to nutritional deficiencies or chronic infections, but in rare cases, it may signal an underlying structural gastrointestinal anomaly. This blog highlights a clinically intriguing pediatric case of severe anemia caused by a duodenal duplication cyst a condition that often remains undetected until advanced investigations are performed. Such rare presentations emphasize the importance of multidisciplinary evaluation in pediatric gastroenterology. For more peer-reviewed insights in gastroenterology and hepatology, visit https://www.gastrohepatoljournal.com/index.php/acgh.

Understanding the Clinical Presentation

A 12-year-old girl presented with:

• Easy fatigability and exertional dyspnea
• A single episode of black tarry stool
• Severe pallor with hyperdynamic circulation

Laboratory investigations revealed profound iron-deficiency anemia with hemoglobin levels as low as 4.7 g/dL and repeatedly positive fecal occult blood tests, indicating ongoing gastrointestinal blood loss.

Diagnostic Evaluation and Imaging Findings

Despite the absence of abdominal pain or overt gastrointestinal symptoms, advanced diagnostic workup played a crucial role:

• Ultrasonography (USG) detected a cystic lesion in the second part of the duodenum
• Upper gastrointestinal endoscopy showed a large cystic mass without mucosal ulceration
• Endoscopic ultrasound (EUS) confirmed a characteristic three-layered cyst wall
• Barium contrast studies revealed an intraluminal filling defect

These findings narrowed the differential diagnosis to duodenal duplication cyst, choledochocele, or gastrointestinal stromal tumor.

Surgical Management and Outcome

The patient underwent surgery, where a 3×3 cm cystic mass was identified intraoperatively. Marsupialization of the cyst was performed successfully, and histopathology confirmed a duodenal duplication cyst.

Postoperative recovery was uneventful:

• No recurrence of gastrointestinal bleeding
• Fecal occult blood tests turned negative
• Hemoglobin levels normalized on follow-up

This case underscores that surgical intervention offers definitive cure when timely diagnosis is achieved.

Clinical Insights into Duodenal Duplication Cysts

Duodenal duplication cysts are rare congenital anomalies, accounting for only 2–12% of gastrointestinal duplications. They may remain asymptomatic or present with complications such as:

• Chronic gastrointestinal bleeding
• Pancreatitis
• Intestinal obstruction
• Obstructive jaundice

According to broader pediatric gastroenterology guidelines, early imaging and endoscopic evaluation are essential in unexplained anemia. Organizations like the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) emphasize comprehensive diagnostic pathways for obscure gastrointestinal bleeding in children.

Access the Original Study

A detailed analysis of this rare presentation can be found in the main journal article.
Read the full study at: https://doi.org/10.29328/journal.hcg.1001002

Midway through your exploration of rare gastrointestinal disorders, you can also browse related pediatric case reports available on gastrohepatoljournal for deeper clinical perspectives.

Key Takeaways

• Rare structural anomalies can be hidden causes of severe anemia in children
• Duodenal duplication cysts pose significant diagnostic challenges
• Multimodal imaging improves diagnostic accuracy
• Surgical management is curative with excellent outcomes

Call to Action

Explore more studies at https://www.gastrohepatoljournal.com/index.php/acgh and join the conversation by sharing your thoughts in the comments below!

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